ClinVar Miner

Submissions for variant NM_003335.3(UBA7):c.688G>A (p.Val230Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004293067 SCV003952621 uncertain significance not specified 2023-03-29 criteria provided, single submitter clinical testing The c.688G>A (p.V230M) alteration is located in exon 6 (coding exon 6) of the UBA7 gene. This alteration results from a G to A substitution at nucleotide position 688, causing the valine (V) at amino acid position 230 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003928972 SCV004742468 likely benign UBA7-related disorder 2023-04-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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